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Results 1 - 10 of 13 for Anophthalmia
  1. SOX2 anophthalmia syndrome 
    SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.People with SOX2 anophthalmia ...
    https://medlineplus.gov/.../condition/sox2-anophthalmia-syndrome - Genetics
  2. Ophthalmo-acromelic syndrome 
    ... The eyes are often absent or severely underdeveloped (anophthalmia), or they may be abnormally small (microphthalmia). Usually ... limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  3. Microphthalmia 
    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  4. SOX2 gene 
    ... SOX2 gene have been found to cause SOX2 anophthalmia syndrome. Some of these mutations prevent the gene ... structures causes the signs and symptoms of SOX2 anophthalmia syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/sox2 - Genetics
  5. Coloboma 
    ... microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  6. OTX2 gene 
    ... Ogata T. OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional ... Fujieda K. OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
  7. SMOC1 gene 
    ... calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome. Am J Hum Genet. 2011 Jan 7; ... BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice. PLoS Genet. 2011 ...
    https://medlineplus.gov/genetics/gene/smoc1 - Genetics
  8. Frontonasal dysplasia 
    ... dysplasia type 3 include eyes that are missing (anophthalmia) or very small (microphthalmia) and low-set ears ...
    https://medlineplus.gov/genetics/condition/frontonasal-dysplasia - Genetics
  9. Branchio-oculo-facial syndrome 
    ... abnormalities include unusually small eyeballs (microphthalmia), no eyeballs (anophthalmia), a gap or split in structures that make ...
    https://medlineplus.gov/.../condition/branchio-oculo-facial-syndrome - Genetics
  10. Focal dermal hypoplasia 
    ... small eyes (microphthalmia), absent or severely underdeveloped eyes (anophthalmia), and problems with the tear ducts. Affected individuals ...
    https://medlineplus.gov/genetics/condition/focal-dermal-hypoplasia - Genetics
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